Table 2.

Mutations in the Perforin Gene

MutationType andFamily	Protein-SequenceAlterationa	Nucleotide-SequenceAlteration	Exon
Nonsense:
1	Trp374stop	1122 G→A	3
7	Trp374stop	1122 G→A	3
9b	Tyr219stop	657 C→A	3
11	Trp374stop	1122 G→A	3
17	Trp374stop	1122 G→A	3
Missense:
3	Ile224asp	671 T→A	3
9b	Val50met	148 G→A	2
Deletion:
33	Δlys285c	853–855 del AAG	3

^aThe Trp374stop mutation was initially reported by Stepp et al. (1999).

^bCompound heterozygote.

^cΔ = deletion.